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Journal Abstract Search

172 related items for PubMed ID: 15373769

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  • 2. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
    Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapière CM, Prockop DJ, Nusgens BV.
    Am J Hum Genet; 1999 Aug; 65(2):308-17. PubMed ID: 10417273
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  • 3. Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis.
    Le Goff C, Somerville RP, Kesteloot F, Powell K, Birk DE, Colige AC, Apte SS.
    Development; 2006 Apr; 133(8):1587-96. PubMed ID: 16556917
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  • 9. The Ehlers-Danlos syndromes.
    Yeowell HN, Pinnell SR.
    Semin Dermatol; 1993 Sep; 12(3):229-40. PubMed ID: 8217561
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  • 10. The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).
    Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, Nusgens B, Martens L, De Paepe A.
    Am J Med Genet A; 2004 Nov 15; 131(1):18-28. PubMed ID: 15389701
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  • 15. Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers-Danlos Syndrome.
    Jaffey JA, Bullock G, Guo J, Mhlanga-Mutangadura T, O'Brien DP, Coates JR, Morrissey R, Hutchison R, Donnelly KS, Cohn LA, Katz ML, Johnson GS.
    Genes (Basel); 2022 Nov 19; 13(11):. PubMed ID: 36421833
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  • 17. The procollagen N-proteinases ADAMTS2, 3 and 14 in pathophysiology.
    Bekhouche M, Colige A.
    Matrix Biol; 2015 Nov 19; 44-46():46-53. PubMed ID: 25863161
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  • 18. A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.
    Walker LC, Marini JC, Grange DK, Filie J, Yeowell HN.
    Mol Genet Metab; 1999 May 19; 67(1):74-82. PubMed ID: 10329027
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  • 19. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.
    Yeowell HN, Walker LC.
    Mol Genet Metab; 2000 May 19; 71(1-2):212-24. PubMed ID: 11001813
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  • 20. Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.
    Yeowell HN, Walker LC.
    Proc Assoc Am Physicians; 1997 Jul 19; 109(4):383-96. PubMed ID: 9220536
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